Pathogenic Mechanisms in Centronuclear Myopathies
نویسندگان
چکیده
منابع مشابه
Pathogenic Mechanisms in Centronuclear Myopathies
Centronuclear myopathies (CNMs) are a genetically heterogeneous group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and abundant central nuclei as the most prominent histopathological feature. The most common forms of congenital myopathies with central nuclei have been attributed to X-linked recessive mutations in the MTM1 gene encoding myotubu...
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The centronuclear myopathies (CNMs) are a group of inherited neuromuscular disorders classified as congenital myopathies. While several causative genes have been identified, some patients do not harbor any of the currently known mutations. These diverse disorders have common histological features, which include a high proportion of centrally nucleated muscle fibers, and clinical attributes of m...
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Recent work has significantly enhanced our understanding of the centronuclear myopathies and, in particular, myotubular myopathy. These myopathies share similar morphologic appearances with other diseases, namely the presence of hypotrophic myofibers with prominent internalized or centrally placed nuclei. Early workers suggested that this alteration represented an arrest in myofiber maturation,...
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The constructs pEGFP BIN1 full length (isoform 8, 454 aa) and pEGFP BAR+PI (aa 1-281) were obtained from P. De Camilli (Yale University, New York). cDNA corresponding to MTM1 sequence (603 aa) was cloned into pEGFP-C1 (Clontech, N-ter GFP fusion) by PCR amplification followed by BamH1 restriction and into pCS2+ vector ([1], untagged). cDNA corresponding to the full length, BAR+PI, BAR (aa 1-255...
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Mutations in any of the three genes coding for the extracellular matrix protein collagen VI cause different types of muscle diseases, including Bethlem Myopathy (BM), Ullrich Congenital Muscular Dystrophy (UCMD) and Congenital Myosclerosis (1). Collagen VI null (Col6a1–/–) mice display a myopathic phenotype with organelle defects, mitochondrial dysfunction and spontaneous apoptosis of muscle fi...
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ژورنال
عنوان ژورنال: Frontiers in Aging Neuroscience
سال: 2014
ISSN: 1663-4365
DOI: 10.3389/fnagi.2014.00339